| Variant ID | 19306 |
|---|---|
| Entrez Gene ID | 56986 |
| Gene | DTWD1 (GeneCards) |
| Location | hg19 15:49965631-49965631
hg38 15:49673434-49673434 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.49965631 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2431 |
| CADD Raw score (version 1.3) | 0.07568 (Deleterious) |
| FATHMM raw prediction score | 0.08048 (Tolerated) |
| Deleterious probability by DeFine | 0.3028 (Neutral) |
| Entrez Gene ID | 56986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DTWD1 (GeneCards) |
| Number of variants in DTWD1 in this database | 3 (view all the variants) |
| Full name | DTW domain containing 1 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000131567 HGNC: HGNC:30926 Ensembl: ENSG00000104047 |
| Other names | MDS009 |
| Summary | None |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |